Canonical Allele Identifier: CA3162417
Gene: CYP4V2 HGNC NCBI

Linked Data

dbSNP Id: rs777542729
ExAC: 4:187113075 T / C
gnomAD v2: 4-187113075-T-C
gnomAD v4: 4-186191921-T-C
MyVariant Identifiers: chr4:g.187113075T>C (hg19) chr4:g.186191921T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186191921T>C , CM000666.2:g.186191921T>C GRCh38
NC_000004.11:g.187113075T>C , CM000666.1:g.187113075T>C GRCh37
NC_000004.10:g.187350069T>C NCBI36
NG_007965.1:g.5402T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.98T>C MANE Select ENSP00000368079.4:p.Leu33Pro
ENST00000378802.4:c.98T>C ENSP00000368079.4:p.Leu33Pro
NM_207352.3:c.98T>C NP_997235.3:p.Leu33Pro
XM_005262935.2:c.98T>C XP_005262992.1:p.Leu33Pro
XM_005262935.4:c.98T>C XP_005262992.1:p.Leu33Pro
XM_017008037.1:c.-213T>C XP_016863526.1:n.-213T>C
NM_207352.4:c.98T>C MANE Select NP_997235.3:p.Leu33Pro
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